B. Amores Arriaga

Respuesta precoz a idursulfasa en un paciente de 31 años de edad con síndrome de Hunter

The response to Enzyme Replacement Therapy (ERT) in Hunter syndrome (MPS II) occurs early in most of the patients after its initiation and continues during the first 12-18 months. However, almost all the patients with MPS II have severe forms of the disease and death occurs prematurely. More than 90% of subjects die before 25 years, and only a minority will survive after the age of 30. There is very limited information on early response to ERT among adult patients with Hunters syndrome. We report the case of a 31 year-old male with MPS II, with a remarkably severe joint disability, but mild cognitive impairment, who was treated with idursulfase for six months. The pattern of response observed, was similar to what can be expected in younger patients. The amelioration in joint mobility observed in this case suggests that older patients with advanced articular involvement may benefit from idursulfase, even when therapy is started in later stages of the disease.

Urgencias hipertensivas: descripción de características clínicas, manejo, variables asociadas a reconsulta y pronóstico a corto plazo

OBJECTIVES To describe the characteristics of hypertensive urgencies at the emergency department, as well as the variables associated with early re-admission (<7 days) and re-admission at one month (<30 days). METHODS We conducted a descriptive, retrospective study of all patients who were admitted to the emergency department of a third level hospital during 2013. Subsequently, a case-control analysis was performed to analyze the group of patients with readmission. RESULTS A total of 398 hypertensive urgencies were collected (32.4% men, mean age 67.75 years), which led to an incidence of 3.28/1000 visits. Eighty point nine percent had a previous history of hypertension, and the mean Charlson Index was 2.23. Headache was the most frequent symptom (49.1%), followed by dizziness/instability (29.5%) and nausea/vomiting (17.1%). Eighty point seven percent of the patients were prescribed pharmacological treatment. The rates of cardiovascular events or mortality at one month were low (2.26% and 0.25% respectively). Despite this, 7.53% and 11.31% of patients were readmitted in under 7 days or 30 days, respectively. The variables associated with readmission in the multivariate analysis were elevated systolic blood pressure in the first determination, previous hypertension and the presence of palpitations. CONCLUSIONS Hypertensive emergencies are high-incidence conditions in the Emergency Department. In our study, patients with a prior diagnosis of hypertension and elevated systolic blood pressure at the first determination had a higher risk of re-entry and would be candidates for closer follow-up on discharge.

Calcinosis cutis en paciente adulto con dermatomiositis

Varon de 76 anos diagnosticado de dermatomiositis con clinica de debilidad muscular y lesiones cutaneas tipicas. Se pauto tratamiento con corticoides y metrotexato, con muy buena evolucion clinica. En el cribado inicial para descartar neoplasia, se realizo tomografia computarizada toraco-abdomino-pelvica, sin evidenciar imagenes patologicas. Al ano del diagnostico se le repitio el estudio de imagen, apreciandose extensas calcificaciones subcutaneas sobre region lumbar y glutea (fig. 1A y B ), sin repercusion clinica. La calcinosis se presenta entre el 10-40% de

Tratamiento de los factores de riesgo vascular y objetivos terapéuticos

Global cardiovascular risk assessment is recommended for every individual patient. Among other risk factors and clinical conditions, management of diabetes, hypertension and smoking will be reviewed here. Goals in diabetes control should be individualized for every patient. Treatment includes diet modification, physical exercise and pharmacological treatment including insulins and oral antidiabetic drugs. When treating hypertension the main benefit depends on the reduction of blood pressure achieved. Both lifestyle modifications and drugs may contribute to reach blood pressure targets. Smoking cessation therapies have shown to reduce quit rates. They are based on behavioral support and pharmacological aids if necessary. First-line smoking cessation therapies help to control smoker physical addiction and are: nicotine replacement therapy (NRT), bupropion and varenicline.

La afectación gastrointestinal de las enfermedades sistémicas y metabólicas

Resumen Hay muchas enfermedades que se presentan con clinica digestiva que no solo condiciona la sintomatologia sino tambien el tratamiento y el pronostico. Recoger todas ellas es dificil, por lo que en esta revision nos centramos en las mas prevalentes o en las que su expresividad clinica es mas caracteristica. Entre ellas se describen la diabetes, con los dos grandes sindromes que ocasiona, la gastroparesia y la diarrea. Tambien se repasan las enfermedades neurologicas, reumatologicas, en especial la clinica y afectacion de las vasculitis y la afectacion digestiva causada por los tumores. Ademas recogemos los efectos secundarios digestivos mas habituales en farmacos de amplio uso.

Hipertensión e hipopotasemia en una mujer de 49 años

Primary aldosteronism resulting from an adrenocortical adenoma is an uncommon but potentially curable form of hypertension. We present the case of a 49-year-old woman that initiated with severe hypertension that was treated with diuretics and ACE inhibitors before being hospitalized. When she came to consult, she had hypokalemia. This persisted in spite of administering potassium supplements and discontinuing the diuretics and ACE

Signo del tres invertido y pirosis

Se trata de un paciente varon de 62 anos de edad que ingresa en nuestro servicio procedente de Urgencias por presentar desde hace 2 meses pirosis retroesternal, astenia, hiporexia y perdida de 5 kilos. A la exploracion fisica destaca la palidez y la hepatomegalia de dos traveses dolorosa. Entre sus antecedentes destacan linfoma mediastinico hace 19 anos, con buena respuesta al tratamiento quimioterapico. En la analitica inicial hay anemia microcitica (hemoglobina: 7,5 g/dl, volumen corpuscular medio: 75,5 fl), con leucocitos y plaquetas normales. La velocidad de sedimentacion es de 86 mm en la primera hora, y las GOT, GPT, LDH y fosfatasa alcalina eran normales. Dada la clinica predominante, se realiza una fibrogastroscopia que objetiva una estenosis de la segunda porcion del duodeno que impide el paso del endoscopio y que ocasiona un estomago retencionista. El aspecto de la mucosa duodenal en dicha zona es sugestivo de infiltracion, y se toman biopsias. El Servicio de Endoscopia recomienda la realizacion de un transito gastroduodenal que confirma la estenosis duodenal con traccion, descrito clasicamente como el signo del tres invertido (fig. 1) o signo de Frostberg, y una tomografia axial computarizada (TAC) abdominal.